DBNDD2

dysbindin domain containing 2

Basic information

Region (hg38): 20:45406057-45410610

Previous symbols: [ "C20orf35" ]

Links

ENSG00000244274NCBI:55861OMIM:611453HGNC:15881Uniprot:Q9BQY9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DBNDD2 gene.

  • not_specified (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DBNDD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001048225.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
21
clinvar
21
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 21 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DBNDD2protein_codingprotein_codingENST00000372710 34554
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.008310.9381247820101247920.0000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8871181480.7950.000008611681
Missense in Polyphen4259.1150.71048639
Synonymous0.2646264.70.9580.00000415551
Loss of Function1.67511.00.4566.36e-7100

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001870.000187
Ashkenazi Jewish0.000.00
East Asian0.00005560.0000556
Finnish0.000.00
European (Non-Finnish)0.00003570.0000353
Middle Eastern0.00005560.0000556
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May modulate the activity of casein kinase-1. Inhibits CSNK1D autophosphorylation (in vitro). {ECO:0000269|PubMed:16618118}.;

Recessive Scores

pRec
0.0715

Haploinsufficiency Scores

pHI
0.0976
hipred
N
hipred_score
0.146
ghis
0.516

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.126

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dbndd2
Phenotype
endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; reproductive system phenotype;

Gene ontology

Biological process
negative regulation of protein kinase activity
Cellular component
cytoplasm
Molecular function
protein binding